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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 1,061 - 1,066 (6page)
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초록· 키워드
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Purpose: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent seriousclinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially high risk of false-positive results,and repetitive NBS after total parenteral nutrition is completely off results in delayed diagnosis. Here, we present the usefulnessof a targeted next-generation sequencing (TNGS) panel to complement NBS for early diagnosis in high-risk neonates. Materials and Methods: The TNGS panel covered 198 genes associated with actionable genetic and metabolic diseases that aretypically included in NBS programs in Korea using tandem mass spectrometry. The panel was applied to 48 infants admitted to theNICU of Severance Children’s Hospital between May 2017 and September 2017. The infants were not selected for suspected metabolicdisorders. Results: A total of 13 variants classified as likely pathogenic or pathogenic were detected in 11 (22.9%) neonates, including sixgenes (DHCR7, PCBD1, GAA, ALDOB, ATP7B, and GBA) associated with metabolic diseases not covered in NBS. One of the 48infants was diagnosed with an isobutyl-CoA dehydrogenase deficiency, and false positive results of tandem mass screening wereconfirmed in two infants using the TNGS panel. Conclusion: The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlierdiagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.
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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Berry SA / 2015 / Newborn screening / Clin Perinatol 42:441~453
Therrell BL / 2015 / Current status of newborn screening worldwide : 2015 / Semin Perinatol 39:171~187
Bhattacharjee A / 2015 / Development of DNA confirmatory and highrisk diagnostic testing for newborns using targeted next-generation DNA sequencing / Genet Med 17:337~347
Bodian DL / 2016 / Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1, 696 neonates / Genet Med 18:221~230
Miller J / 2009 / Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. CLSI document I/LA31-A / Clinical and Laboratory Standards Institute
Therrell BL / 2015 / Current status of newborn screening worldwide : 2015 / Semin Perinatol 39:171~187
Bhattacharjee A / 2015 / Development of DNA confirmatory and highrisk diagnostic testing for newborns using targeted next-generation DNA sequencing / Genet Med 17:337~347
Bodian DL / 2016 / Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1, 696 neonates / Genet Med 18:221~230
Miller J / 2009 / Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. CLSI document I/LA31-A / Clinical and Laboratory Standards Institute
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